Rojnueangnit K - Search Results

1

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.

Rojnueangnit K, Phawan T, Khetkham T, Techasatid W, Sirichongkolthong B. Rojnueangnit K, et al. Am J Med Genet A. 2022 Feb;188(2):658-664. doi: 10.1002/ajmg.a.62562. Epub 2021 Nov 10. Am J Med Genet A. 2022. PMID: 34755929

2

Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis.

Vorravanpreecha N, Lertboonnum T, Rodjanadit R, Sriplienchan P, Rojnueangnit K. Vorravanpreecha N, et al. Among authors: rojnueangnit k. Am J Med Genet A. 2018 Sep;176(9):1935-1940. doi: 10.1002/ajmg.a.40483. Epub 2018 Aug 2. Am J Med Genet A. 2018. PMID: 30070762

3

Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome.

Chukua K, Netsawang C, Padungthai K, Khetkham T, Chokevittaya P, Poonjearansilp O, Prachuktum S, Kositamongkol S, Techasatit W, Silapamongkolkul P, Satayasai W, Pusongchai T, Surapolchai P, Rojnueangnit K. Chukua K, et al. Among authors: rojnueangnit k. J Pediatr Genet. 2019 Dec;8(4):187-192. doi: 10.1055/s-0039-1696971. Epub 2019 Sep 11. J Pediatr Genet. 2019. PMID: 31687255 Free PMC article.

4

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.

Rojnueangnit K, Sirichongkolthong B, Wongwandee R, Khetkham T, Noojarern S, Khongkraparn A, Wattanasirichaigoon D. Rojnueangnit K, et al. Pediatr Cardiol. 2020 Jan;41(1):165-174. doi: 10.1007/s00246-019-02240-x. Epub 2019 Nov 11. Pediatr Cardiol. 2020. PMID: 31712860

5

LACHT syndrome (Mardini-Nyhan association) with tracheal stenosis in a Thai newborn.

Rojnueangnit K, Kositamongkol S, Paoin W, Satdhabudha A, Pharadornuwat O, Wongwandee R, Thammachote W, Jinawath N. Rojnueangnit K, et al. Am J Med Genet A. 2020 Sep;182(9):2175-2180. doi: 10.1002/ajmg.a.61746. Epub 2020 Jul 9. Am J Med Genet A. 2020. PMID: 32648367

6

Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application.

Srisraluang W, Rojnueangnit K. Srisraluang W, et al. Among authors: rojnueangnit k. Am J Med Genet A. 2021 Dec;185(12):3701-3705. doi: 10.1002/ajmg.a.62432. Epub 2021 Jul 21. Am J Med Genet A. 2021. PMID: 34288412

7

Genetic diagnosis for adult patients at a genetic clinic.

Rojnueangnit K, Anthanont P, Khetkham T, Puttamanee S, Ittiwut C. Rojnueangnit K, et al. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006235. doi: 10.1101/mcs.a006235. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36265913 Free PMC article.

8

Craniosynostosis and radial ray defect: a rare presentation of 22q11.2 deletion syndrome.

Rojnueangnit K, Robin NH. Rojnueangnit K, et al. Am J Med Genet A. 2013 Aug;161A(8):2024-6. doi: 10.1002/ajmg.a.36004. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813949

9

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Rojnueangnit K, Jones JR, Basehore MJ, Robin NH. Rojnueangnit K, et al. Am J Med Genet A. 2014 Feb;164A(2):516-21. doi: 10.1002/ajmg.a.36299. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311527

10

Sex-discordant monochorionic twins with blood and tissue chimerism.

Rodriguez-Buritica D, Rojnueangnit K, Messiaen LM, Mikhail FM, Robin NH. Rodriguez-Buritica D, et al. Among authors: rojnueangnit k. Am J Med Genet A. 2015 Apr;167A(4):872-7. doi: 10.1002/ajmg.a.37022. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708669

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